Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03264:Arhgef17'

415023

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef17

Ensembl Gene

ENSMUSG00000032875

Gene Name

Rho guanine nucleotide exchange factor 17

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03264

Quality Score

Status

Chromosome

Chromosomal Location

100518959-100581314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100529220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1531 (D1531E)

Ref Sequence

ENSEMBL: ENSMUSP00000102647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107032] [ENSMUST00000209041]

AlphaFold

Q80U35

Predicted Effect

probably benign
Transcript: ENSMUST00000107032
AA Change: D1531E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: D1531E

Domain	Start	End	E-Value	Type
low complexity region	65	74	N/A	INTRINSIC
low complexity region	160	175	N/A	INTRINSIC
low complexity region	196	209	N/A	INTRINSIC
low complexity region	227	255	N/A	INTRINSIC
low complexity region	282	297	N/A	INTRINSIC
low complexity region	314	323	N/A	INTRINSIC
low complexity region	507	526	N/A	INTRINSIC
low complexity region	559	572	N/A	INTRINSIC
low complexity region	828	842	N/A	INTRINSIC
low complexity region	970	984	N/A	INTRINSIC
RhoGEF	1063	1246	9.56e-61	SMART
Blast:PH	1281	1466	4e-88	BLAST
low complexity region	1582	1595	N/A	INTRINSIC
low complexity region	1630	1642	N/A	INTRINSIC
low complexity region	1646	1657	N/A	INTRINSIC
low complexity region	1661	1701	N/A	INTRINSIC
low complexity region	1708	1719	N/A	INTRINSIC
low complexity region	2033	2040	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175555

Predicted Effect

probably benign
Transcript: ENSMUST00000208482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208735

Predicted Effect

probably benign
Transcript: ENSMUST00000209041
AA Change: D522E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	G	17: 31,283,428 (GRCm39)	S38A	probably benign	Het
Alkbh1	T	G	12: 87,478,197 (GRCm39)	D238A	probably damaging	Het
Bltp1	A	T	3: 37,056,784 (GRCm39)	I3152F	probably damaging	Het
Cacng3	G	T	7: 122,271,180 (GRCm39)	G62W	probably damaging	Het
Cdh22	T	C	2: 164,958,093 (GRCm39)	I625V	probably benign	Het
Ces5a	T	C	8: 94,228,898 (GRCm39)	N444S	possibly damaging	Het
Chst13	A	T	6: 90,286,193 (GRCm39)	Y256*	probably null	Het
Clcn5	T	A	X: 7,044,613 (GRCm39)	H177L	probably benign	Het
Dars1	G	A	1: 128,341,427 (GRCm39)	R63C	probably damaging	Het
Dcun1d4	A	G	5: 73,677,572 (GRCm39)	S84G	probably benign	Het
Dcxr	T	C	11: 120,617,298 (GRCm39)	N82D	probably damaging	Het
Eef1a2	C	A	2: 180,790,527 (GRCm39)	K376N	possibly damaging	Het
Efhc1	G	A	1: 21,037,715 (GRCm39)	M297I	probably benign	Het
Etfb	G	T	7: 43,101,897 (GRCm39)	V64F	probably damaging	Het
Fam135b	A	C	15: 71,334,637 (GRCm39)	N852K	probably benign	Het
Gigyf2	T	C	1: 87,376,790 (GRCm39)		probably benign	Het
Gria4	T	C	9: 4,513,288 (GRCm39)	K274E	probably benign	Het
Irag1	A	T	7: 110,525,553 (GRCm39)	S200T	probably benign	Het
Itgae	A	G	11: 73,006,400 (GRCm39)	E356G	possibly damaging	Het
Med12l	C	T	3: 59,208,788 (GRCm39)	Q2139*	probably null	Het
Plxna4	A	G	6: 32,155,337 (GRCm39)	F1536L	possibly damaging	Het
Pramel19	A	T	4: 101,798,329 (GRCm39)	Q100L	probably damaging	Het
Rmnd5a	A	G	6: 71,370,119 (GRCm39)	I389T	probably damaging	Het
Rnf128	T	G	X: 138,511,985 (GRCm39)	V144G	probably damaging	Het
Rpgrip1	A	G	14: 52,378,109 (GRCm39)	T486A	possibly damaging	Het
Rps6kc1	T	C	1: 190,604,026 (GRCm39)	T199A	probably benign	Het
Skint5	T	A	4: 113,343,854 (GRCm39)	D1338V	unknown	Het
Slc35g2	A	T	9: 100,434,699 (GRCm39)	I324K	possibly damaging	Het
Slc4a5	G	A	6: 83,238,507 (GRCm39)	R225H	probably damaging	Het
Srgap3	A	T	6: 112,793,636 (GRCm39)	H113Q	probably damaging	Het
Stpg2	A	C	3: 139,014,970 (GRCm39)	K378N	possibly damaging	Het
Svep1	A	G	4: 58,066,422 (GRCm39)		probably benign	Het
Utp11	T	C	4: 124,573,521 (GRCm39)	K218E	probably damaging	Het
Vmn2r53	T	A	7: 12,315,819 (GRCm39)	I667F	possibly damaging	Het
Wdfy3	A	G	5: 102,048,016 (GRCm39)	L1763P	probably damaging	Het
Wnt2	A	G	6: 17,989,959 (GRCm39)	Y313H	probably benign	Het
Zfp638	T	C	6: 83,923,229 (GRCm39)	S676P	probably benign	Het
Zfp747l1	A	G	7: 126,984,811 (GRCm39)		probably benign	Het

Other mutations in Arhgef17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Arhgef17	APN	7	100,578,656 (GRCm39)	missense	probably benign
IGL01071:Arhgef17	APN	7	100,534,907 (GRCm39)	missense	probably damaging	0.99
IGL01882:Arhgef17	APN	7	100,527,787 (GRCm39)	nonsense	probably null
IGL01995:Arhgef17	APN	7	100,577,862 (GRCm39)	missense	probably benign	0.02
IGL02213:Arhgef17	APN	7	100,539,633 (GRCm39)	missense	probably benign
IGL02380:Arhgef17	APN	7	100,578,650 (GRCm39)	missense	possibly damaging	0.60
IGL02551:Arhgef17	APN	7	100,579,553 (GRCm39)	missense	probably damaging	1.00
IGL02613:Arhgef17	APN	7	100,578,103 (GRCm39)	missense	probably damaging	1.00
IGL02643:Arhgef17	APN	7	100,533,089 (GRCm39)	missense	possibly damaging	0.95
IGL02798:Arhgef17	APN	7	100,578,833 (GRCm39)	missense	probably benign	0.00
IGL03113:Arhgef17	APN	7	100,578,938 (GRCm39)	missense	probably benign	0.00
G1Funyon:Arhgef17	UTSW	7	100,528,866 (GRCm39)	missense	probably benign	0.00
R0064:Arhgef17	UTSW	7	100,530,561 (GRCm39)	missense	probably benign	0.00
R0189:Arhgef17	UTSW	7	100,578,057 (GRCm39)	missense	probably damaging	1.00
R0482:Arhgef17	UTSW	7	100,529,828 (GRCm39)	missense	probably damaging	1.00
R0826:Arhgef17	UTSW	7	100,579,950 (GRCm39)	missense	probably benign	0.01
R1295:Arhgef17	UTSW	7	100,530,476 (GRCm39)	nonsense	probably null
R1296:Arhgef17	UTSW	7	100,530,476 (GRCm39)	nonsense	probably null
R1389:Arhgef17	UTSW	7	100,580,244 (GRCm39)	small deletion	probably benign
R1466:Arhgef17	UTSW	7	100,578,866 (GRCm39)	missense	possibly damaging	0.48
R1466:Arhgef17	UTSW	7	100,578,866 (GRCm39)	missense	possibly damaging	0.48
R1513:Arhgef17	UTSW	7	100,580,069 (GRCm39)	missense	probably benign
R1539:Arhgef17	UTSW	7	100,539,680 (GRCm39)	missense	probably damaging	1.00
R1644:Arhgef17	UTSW	7	100,578,711 (GRCm39)	missense	probably damaging	1.00
R1789:Arhgef17	UTSW	7	100,579,077 (GRCm39)	missense	probably damaging	1.00
R1861:Arhgef17	UTSW	7	100,531,475 (GRCm39)	missense	probably damaging	1.00
R1868:Arhgef17	UTSW	7	100,528,184 (GRCm39)	missense	probably benign
R2009:Arhgef17	UTSW	7	100,530,988 (GRCm39)	missense	probably damaging	0.98
R2095:Arhgef17	UTSW	7	100,530,470 (GRCm39)	missense	probably damaging	1.00
R2311:Arhgef17	UTSW	7	100,578,111 (GRCm39)	missense	probably benign	0.35
R3607:Arhgef17	UTSW	7	100,580,379 (GRCm39)	missense	probably damaging	1.00
R3882:Arhgef17	UTSW	7	100,525,661 (GRCm39)	missense	possibly damaging	0.70
R4089:Arhgef17	UTSW	7	100,533,006 (GRCm39)	missense	probably damaging	1.00
R4420:Arhgef17	UTSW	7	100,531,515 (GRCm39)	splice site	probably benign
R4536:Arhgef17	UTSW	7	100,579,061 (GRCm39)	missense	probably damaging	1.00
R4548:Arhgef17	UTSW	7	100,580,336 (GRCm39)	missense	possibly damaging	0.60
R4616:Arhgef17	UTSW	7	100,531,692 (GRCm39)	missense	probably damaging	1.00
R5040:Arhgef17	UTSW	7	100,526,032 (GRCm39)	missense	probably benign	0.17
R5100:Arhgef17	UTSW	7	100,530,963 (GRCm39)	missense	possibly damaging	0.90
R5233:Arhgef17	UTSW	7	100,530,576 (GRCm39)	missense	possibly damaging	0.61
R5307:Arhgef17	UTSW	7	100,578,635 (GRCm39)	missense	probably benign	0.00
R5313:Arhgef17	UTSW	7	100,578,131 (GRCm39)	missense	probably damaging	0.99
R5643:Arhgef17	UTSW	7	100,529,218 (GRCm39)	missense	probably damaging	1.00
R5704:Arhgef17	UTSW	7	100,530,548 (GRCm39)	missense	probably damaging	1.00
R6166:Arhgef17	UTSW	7	100,525,699 (GRCm39)	missense	probably damaging	1.00
R6417:Arhgef17	UTSW	7	100,579,269 (GRCm39)	missense	probably damaging	1.00
R6420:Arhgef17	UTSW	7	100,579,269 (GRCm39)	missense	probably damaging	1.00
R6510:Arhgef17	UTSW	7	100,527,743 (GRCm39)	missense	probably damaging	0.97
R6877:Arhgef17	UTSW	7	100,530,548 (GRCm39)	missense	probably damaging	1.00
R6888:Arhgef17	UTSW	7	100,580,027 (GRCm39)	missense	possibly damaging	0.74
R7016:Arhgef17	UTSW	7	100,528,184 (GRCm39)	missense	probably benign
R7073:Arhgef17	UTSW	7	100,579,198 (GRCm39)	nonsense	probably null
R7322:Arhgef17	UTSW	7	100,527,004 (GRCm39)	missense	probably benign	0.01
R7691:Arhgef17	UTSW	7	100,578,849 (GRCm39)	missense	probably damaging	1.00
R7724:Arhgef17	UTSW	7	100,529,816 (GRCm39)	missense	probably damaging	1.00
R7728:Arhgef17	UTSW	7	100,579,275 (GRCm39)	missense	probably benign	0.00
R7829:Arhgef17	UTSW	7	100,526,052 (GRCm39)	missense	probably benign	0.03
R8036:Arhgef17	UTSW	7	100,579,062 (GRCm39)	missense	probably damaging	1.00
R8072:Arhgef17	UTSW	7	100,531,004 (GRCm39)	missense	probably benign	0.04
R8301:Arhgef17	UTSW	7	100,528,866 (GRCm39)	missense	probably benign	0.00
R8935:Arhgef17	UTSW	7	100,527,324 (GRCm39)	missense	probably benign	0.03
R8958:Arhgef17	UTSW	7	100,579,019 (GRCm39)	missense	probably damaging	0.98
R9221:Arhgef17	UTSW	7	100,528,818 (GRCm39)	missense	possibly damaging	0.78
R9362:Arhgef17	UTSW	7	100,580,165 (GRCm39)	missense	probably benign	0.12
R9499:Arhgef17	UTSW	7	100,526,102 (GRCm39)	missense	possibly damaging	0.52
R9593:Arhgef17	UTSW	7	100,532,009 (GRCm39)	missense	probably damaging	1.00
X0012:Arhgef17	UTSW	7	100,578,111 (GRCm39)	missense	probably benign	0.35

Posted On

2016-08-02